Autosomal dominant hypocalcemia

Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people ...1

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Symptoms List: Autosomal dominant hypocalcemia

Symptoms and clinical features may include:2 Clinical Features of Autosomal dominant hypocalcemia:

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Types of Autosomal dominant hypocalcemia

Some types of this condition may include:3 Types of autosomal dominant hypocalcemia:

  • autosomal dominant hypocalcemia 1
  • autosomal dominant hypocalcemia 2
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Genetics of Autosomal dominant hypocalcemia

Genetic Changes: Autosomal dominant hypocalcemia is primarily caused by mutations in the CASR gene; these cases are known as type 1. A small percentage of cases, known as type 2, are caused by mutations in the GNA11 gene. The proteins ...4

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Causes

See also causal information:

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)5 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ autosomal-dominant-hypocalcemia
  2. Source: Human Phenotype Ontology
  3. Source: Disease Ontology
  4. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ autosomal-dominant-hypocalcemia
  5. ibid.

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